Abstract:
:We report a 2-year-old girl who presented with delayed development, weakness and persistent vomiting. She had a demyelinating peripheral neuropathy. The activity of cytochrome oxidase in skeletal muscle from the patient was 10% of controls. Immunochemical studies using antibodies to holo-cytochrome oxidase and the individual subunits showed a low concentration of all detectable subunits.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Shepherd IM,Birch-Machin MA,Johnson MA,Sherratt HS,Aynsley-Green A,Droste M,Kadenbach B,Stephenson JB,King MD,Dick DJdoi
10.1016/0022-510x(88)90251-1subject
Has Abstract,Author List Incompletepub_date
1988-11-01 00:00:00pages
265-74issue
2-3eissn
0022-510Xissn
1878-5883pii
0022-510X(88)90251-1journal_volume
87pub_type
杂志文章abstract::Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder of muscle in children. The DMD gene product, "dystrophin", is absent from DMD, while the allelic disease, Becker muscular dystrophy (BMD), exhibits dystrophin of abnormal size and/or quantity. But we are still uncertain about the scenario that in...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(91)90039-a
更新日期:1991-02-01 00:00:00
abstract::Cerebrospinal fluid (CSF) was studied in 2 cases of Devic's syndrome (DS). In one of these cases autopsy was carried out. The main CSF feature in DS is the association of blood-brain barrier damage and intrathecal IgG synthesis. These findings are in keeping with our neuropathological observation of diffuse central ne...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90024-4
更新日期:1987-12-01 00:00:00
abstract::We show here that the major glycolipid in myelin, galactocerebroside, is not only a useful marker for isolated bovine oligodendrocytes but that its quantitation can serve as a probe for cell differentiation. We have produced in the rabbit antisera to bovine oligodendroglia, bovine myelin and galactocerebroside. The bi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90032-5
更新日期:1980-07-01 00:00:00
abstract::The amyloid precursor protein (APP) in brain is processed either by an amyloidogenic pathway by beta-secretase and gamma-secretase to yield Abeta (beta-amyloid 4 kDa) peptide or by alpha-secretase within the beta-amyloid domain to yield non-amyloidogenic products. We have studied blood platelet levels of a 22-kDa frag...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2005.09.002
更新日期:2006-01-15 00:00:00
abstract::The aim of this study was to determine the effectiveness of hypoglossal-facial nerve "side"-to-end (HemiHN-FN) and accessory-facial nerve end-to-end (AN-FN) neurorrhaphy using a predegenerated nerve graft (PNG) for reanimating facial paralysis in a rat FN injury model. A total of 25 rats with complete unilateral facia...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.10.006
更新日期:2014-12-15 00:00:00
abstract::Charcot-Marie-Tooth disease type 1 (CMT1) is a heterogeneous disorder. Most CMT1 patients are associated with a duplication of 17p11.2-p12 (CMT1A duplication), but a small number of patients have mutations of peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), connexin 32 (Cx32) and early growth response ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(03)00028-5
更新日期:2003-06-15 00:00:00
abstract::Acetylcholine (ACh) plays an important role in cognitive function and muscle atonia in rapid eye movement (REM) sleep. This quantitative study used surface electromyography (sEMG) to investigate changes in muscular activity, which may indicate a deficiency of ACh among patients with cognitive impairment. We recruited ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.03.022
更新日期:2011-06-15 00:00:00
abstract:METHODS:The nine hole peg test (9HPT) is an emerging outcome measure in clinical trials in multiple sclerosis (MS). In this study we investigated how performance on the 9HPT at baseline is related to annualized direct MS related cost. METHODS:We enrolled patients with a definite diagnosis of MS from two Canadian MS ce...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2014.03.047
更新日期:2014-06-15 00:00:00
abstract::There have been recent developments in the pathology of sporadic ALS. A new filamentous neuronal inclusion body in ALS detected by immunohistochemical localisation of the protein ubiquitin has been characterised at the light microscopic and ultrastructural level and appears specific for the disease. The molecular comp...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/0022-510x(94)90175-9
更新日期:1994-07-01 00:00:00
abstract:BACKGROUND:Contrast-induced neurotoxicity (CIN) is a rare complication of neurointerventional procedures and its understanding remains limited. We evaluated the association of CIN with systemic hemodynamics in patients undergoing neuroendovascular interventions. METHODS:We conducted a 1:2 matched case-control study fr...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.117209
更新日期:2021-01-15 00:00:00
abstract::Electron-microscopic X-ray microanalysis has been used to compare elemental concentrations in specific organelles in normal and diseased human muscle. An elevated calcium to phosphorus ratio has been found in both myonuclei and interstitial cell nuclei in diseased muscle compared with controls. Preliminary observation...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90129-0
更新日期:1977-09-01 00:00:00
abstract:BACKGROUND:The spectrum of symptoms exhibited by patients with essential tremor (ET) extends far beyond the classical tremor. This study aims to explore and establish the presence of subtle balance abnormalities in ET using dynamic posturography (DP). METHODS:DP was performed on 18 patients with ET and 26 controls. Di...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.12.003
更新日期:2018-02-15 00:00:00
abstract::We aimed to clarify the longitudinal course of mild parkinsonian signs (MPS) and their association with dementia and functional disability by conducting a comprehensive epidemiological study, including brain MRI, and assessments of cognition, depression, and sleep, in people aged ≥65years living in Ama-cho. We diagnos...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.01.016
更新日期:2016-03-15 00:00:00
abstract::The pathogenic mechanism underlying the vascular changes in Binswanger's encephalopathy (BE) is unknown. To test whether alterations of the humoral immunity may lead to endothelium damage, we analyzed serum levels of anti-brain endothelium antibodies (ABEA) (IgG and IgM) in 16 BE patients, 19 subjects with ischemic va...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(94)00215-a
更新日期:1995-01-01 00:00:00
abstract::We evaluated the efficacy of low-dose, add-on therapy of CLB in adults with refractory epilepsy. 28 patients were included: 12 with temporal lobe epilepsy (TLE), 14 with extratemporal lobe epilepsy (ETLE) and 2 with symptomatic generalized epilepsy (SGE). CLB was added with the initial dose of 2.5 mg/day and increased...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2007.05.025
更新日期:2007-12-15 00:00:00
abstract::Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.06.012
更新日期:2009-10-15 00:00:00
abstract::Affective disorders and personality changes have long been considered pre-motor aspects of Parkinson's disease (PD). Many authors have used the term "premorbid personality" to define distinctive features of PD patients' personality characterized by reduced exploration of new environmental stimuli or potential reward s...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2017.01.013
更新日期:2017-03-15 00:00:00
abstract::In order to evaluate progress in preventive therapeutic strategies, and to identify potential targets for improvement, it is essential to assess changes in the risk factors and preventive treatment of stroke over time. All of the strokes occurring within the population of Dijon, France (150,000 inhabitants), were pros...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.08.062
更新日期:2009-12-15 00:00:00
abstract::A method of carrying out electrophysiological experiments on the mouse spinal cord is described. The conduction velocity in the spinal dorsal roots (DR) of the normal mouse was in the range 10-100 m sec-1 and in the ventral roots (VR) 50-70 m sec-1. In the dystrophic mutant (129 ReJ dy/dy) the conduction velocity for ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90005-3
更新日期:1977-01-01 00:00:00
abstract::Unilateral facial spasms (UFS) are frequently caused by hemifacial spasm (HFS), a disorder that usually results from vascular loop compression at the root exit zone of the facial nerve. However, UFS can also be a manifestation of other conditions, including brainstem tumours or demyelination, post-Bell's synkinesis, l...
journal_title:Journal of the neurological sciences
pub_type: 信件
doi:10.1016/j.jns.2019.116532
更新日期:2019-12-15 00:00:00
abstract::Adenylate kinase 5 (AK5) is one member of the AK family and plays a critical role in maintaining cellular homeostasis. Different from the other AKs, AK5 is almost exclusively expressed in the brain. However, its exact biological functions remain unclear. The aim of the present study is to explore the expression patter...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.04.037
更新日期:2016-07-15 00:00:00
abstract::Impairment of nervous function and thiamine metabolism were studied in 40 patients suffering from pernicious anaemia, 20 of whom had not been treated and the other 20 were on hydroxocobalamin therapy. Of the untreated patients 13 (65%) showed signs of peripheral nerve dysfunction with reduced conduction velocities, as...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90180-x
更新日期:1980-03-01 00:00:00
abstract::Intellectual problems are a recognized feature of neurofibromatosis 1 (NF1) but their aetiology is unknown. We investigated the frequency, nature, severity and cause of intellectual impairment in NF1. We undertook neurological and psychometric assessments on 103 patients with NF1 and 105 controls equated for age, sex ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(96)00022-6
更新日期:1996-06-01 00:00:00
abstract::Possible changes in brain metabolites in motor neurone disease/amytrophic lateral sclerosis (MND/ALS) were investigated using 1H magnetic resonance spectroscopy (MRS). A series of normal, healthy volunteer controls and MND patients have been studied using a spin echo (SE) 135 ms sequence, acquiring spectra from the re...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/0022-510x(95)00072-a
更新日期:1995-05-01 00:00:00
abstract:OBJECTIVE:Cerebral gas embolism (CGE) is a potentially catastrophic complication of central venous catheters (CVCs) manipulation or accidental disconnection, which is rarely reported in the literature. This systematic review aims to characterize the clinical manifestations, imaging features and outcome of CGE associate...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2016.01.043
更新日期:2016-03-15 00:00:00
abstract:BACKGROUND:Natalizumab therapy reduces inflammation and degeneration of the CNS in relapsing-remitting multiple sclerosis (RRMS). In cerebrospinal fluid (CSF) the concentration of 24S-hydroxycholesterol (24OHC) reflect neurodegeneration, whereas 27-hydroxycholesterol (27OHC) is dependent on the integrity of the blood-b...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.08.1537
更新日期:2015-11-15 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) has become an increasingly attractive area for the pharmaceutical industry, the most experimentally tractable of the neurodegenerative diseases. Mechanisms underlying cell death in ALS are likely to be important in more common but more complex disorders. Riluzole, the only drug laun...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(00)00419-6
更新日期:2000-11-01 00:00:00
abstract::Hereditary spongiform dystrophy in young children is characterised by macrocephaly with spasticity, convulsions and ultimately a decerebrate state and diffuse electroencephalographic changes. Histological examination of the brain remains essential for its diagnosis. A review of the ultrastructural studies reported by ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(76)90101-5
更新日期:1976-06-01 00:00:00
abstract::Gulf War veterans meeting criteria for Haley Syndrome 2 of Gulf War illness endorse a particular constellation of symptoms that include difficulty with processing information, word-finding, and confusion. To explore the neural basis of their word-finding difficulty, we assessed event-related potentials (ERPs) associat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.12.023
更新日期:2017-02-15 00:00:00
abstract::Gait impairment is one of the most frequent and life-altering consequences of Multiple sclerosis (MS), frequently associated with lower limb spasticity. Focal muscle vibration (fMV) is a technique that applies a vibratory stimulus to a specific muscle or its tendon, reducing spasticity. The aim of our study is to eval...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.11.025
更新日期:2017-01-15 00:00:00